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BMPR1A (bone morphogenetic protein receptor, type IA)

Identity

Other names10q23del
ACVRLK3
ALK3
CD292
SKR5
HGNC (Hugo) BMPR1A
LocusID (NCBI) 657
Location 10q23.2
Location_base_pair Starts at 88516396 and ends at 88684945 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BMPR1A   1076
Cards
Entrez_Gene (NCBI)BMPR1A  657  bone morphogenetic protein receptor, type IA
GeneCards (Weizmann)BMPR1A
Ensembl (Hinxton) [Gene_View]  chr10:88516396-88684945 [Contig_View]  BMPR1A [Vega]
cBioPortalBMPR1A
AceView (NCBI)BMPR1A
Genatlas (Paris)BMPR1A
WikiGenes657
SOURCE (Princeton)NM_004329
Genomic and cartography
GoldenPath (UCSC)BMPR1A  -  10q23.2   chr10:88516396-88684945 +  10q23.2   [Description]    (hg19-Feb_2009)
EnsemblBMPR1A - 10q23.2 [CytoView]
Mapping of homologs : NCBIBMPR1A [Mapview]
OMIM174900   601299   610069   
Gene and transcription
Genbank (Entrez)AB451405 AK291764 BC028383 BM819272 DQ786215
RefSeq transcript (Entrez)NM_004329
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_009362 NT_030059 NW_001837992 NW_004929376
Consensus coding sequences : CCDS (NCBI)BMPR1A
Cluster EST : UnigeneHs.524477 [ NCBI ]
CGAP (NCI)Hs.524477
Alternative Splicing : Fast-db (Paris)GSHG0003523
Gene ExpressionBMPR1A [ NCBI-GEO ]     BMPR1A [ SEEK ]   BMPR1A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36894 (Uniprot)
NextProtP36894  [Medical]
With graphics : InterProP36894
Splice isoforms : SwissVarP36894 (Swissvar)
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_rcpt [organisation]   Kinase-like_dom [organisation]   Prot_kinase_dom [organisation]   Protein_kinase_ATP_BS [organisation]   Ser/Thr_kinase_AS [organisation]   TGF_beta_rcpt_GS [organisation]   TGFB_receptor [organisation]  
Related proteins : CluSTrP36894
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam00069    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations657
Blocks (Seattle)P36894
PDB (SRS)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (PDBSum)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (IMB)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (RSDB)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
Peptide AtlasP36894
HPRD03192
IPIIPI00005731   IPI00979568   
Protein Interaction databases
DIP (DOE-UCLA)P36894
IntAct (EBI)P36894
BioGRIDBMPR1A
InParanoidP36894
Interologous Interaction database P36894
IntegromeDBBMPR1A
STRING (EMBL)BMPR1A
Ontologies - Pathways
Ontology : AmiGOsequence-specific DNA binding RNA polymerase II transcription factor activity  in utero embryonic development  mesoderm formation  somitogenesis  Mullerian duct regression  positive regulation of mesenchymal cell proliferation  endocardial cushion formation  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  plasma membrane  plasma membrane  caveola  transcription from RNA polymerase II promoter  protein phosphorylation  immune response  transforming growth factor beta receptor signaling pathway  ectoderm development  dorsal/ventral axis specification  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell development  integral component of membrane  stem cell maintenance  pituitary gland development  neural plate mediolateral regionalization  signal transduction by phosphorylation  lung development  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  hindlimb morphogenesis  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  protein homodimerization activity  neuronal cell body  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  SMAD binding  metal ion binding  paraxial mesoderm structural organization  lateral mesoderm development  regulation of lateral mesodermal cell fate specification  mesendoderm development  embryonic organ development  developmental growth  positive regulation of epithelial cell proliferation  negative regulation of neurogenesis  cartilage development  palate development  positive regulation of SMAD protein import into nucleus  heart formation  
Ontology : EGO-EBIsequence-specific DNA binding RNA polymerase II transcription factor activity  in utero embryonic development  mesoderm formation  somitogenesis  Mullerian duct regression  positive regulation of mesenchymal cell proliferation  endocardial cushion formation  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  plasma membrane  plasma membrane  caveola  transcription from RNA polymerase II promoter  protein phosphorylation  immune response  transforming growth factor beta receptor signaling pathway  ectoderm development  dorsal/ventral axis specification  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell development  integral component of membrane  stem cell maintenance  pituitary gland development  neural plate mediolateral regionalization  signal transduction by phosphorylation  lung development  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  hindlimb morphogenesis  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  protein homodimerization activity  neuronal cell body  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  SMAD binding  metal ion binding  paraxial mesoderm structural organization  lateral mesoderm development  regulation of lateral mesodermal cell fate specification  mesendoderm development  embryonic organ development  developmental growth  positive regulation of epithelial cell proliferation  negative regulation of neurogenesis  cartilage development  palate development  positive regulation of SMAD protein import into nucleus  heart formation  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway   
Protein Interaction DatabaseBMPR1A
Wikipedia pathwaysBMPR1A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)BMPR1A
snp3D : Map Gene to Disease657
SNP (GeneSNP Utah)BMPR1A
SNP : HGBaseBMPR1A
Genetic variants : HAPMAPBMPR1A
Exome VariantBMPR1A
1000_GenomesBMPR1A 
Cancer Gene: CensusBMPR1A 
Somatic Mutations in Cancer : COSMICBMPR1A 
CONAN: Copy Number AnalysisBMPR1A 
Mutations and Diseases : HGMDBMPR1A
Genomic VariantsBMPR1A  BMPR1A [DGVbeta]
dbVarBMPR1A
ClinVarBMPR1A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM174900    601299    610069   
MedgenBMPR1A
GENETestsBMPR1A
Disease Genetic AssociationBMPR1A
Huge Navigator BMPR1A [HugePedia]  BMPR1A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneBMPR1A
Homology/Alignments : Family Browser (UCSC)BMPR1A
Phylogenetic Trees/Animal Genes : TreeFamBMPR1A
Chemical/Protein Interactions : CTD657
Chemical/Pharm GKB GenePA25386
Clinical trialBMPR1A
Other databases
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
CoreMineBMPR1A
iHOPBMPR1A
OncoSearchBMPR1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:25:22 CEST 2014

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